Varaico: Literature-Extracted Genetic Variants

GC

1,611 papers

RefSeq Summary

The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds...

Pfam Domains

Serum_albuminaa 27–199UCSCSerum albumin family

Serum_albuminaa 218–385UCSCSerum albumin family

VitD-bind_IIIaa 405–469UCSCVitamin D binding protein, domain III

Gene Aliases

HGNC Name

GC vitamin D binding protein

HGNC Alias Symbols

VDBP; hDBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000583.4

p.G14E

c.41G>A

Surrounding Variants

1 paper

NM_000583.4

p.G14V

c.41G>T

1 paper

NM_000583.4

p.G14*

c.40G>T

1 paper

NM_000583.4

p.G14R

c.40G>A

1 paper

NM_000583.4

p.F13delFs

c.38delA

1 paper

NM_000583.4

p.H15P

c.44A>C

1 paper

NM_000583.4

p.F13_G14insA

c.37_41ins3

2 papers

NM_000583.4

p.H15Q

c.45T>G

1 paper

NM_000583.4

p.F13L

c.37T>C

1 paper

NM_000583.4

p.F13I

c.37T>A

2 papers

NM_000583.4

p.A16T

c.46G>A

3 papers

NM_000583.4

p.A16V

c.47C>T

1 paper

NM_000583.4

p.A12G

c.35C>G